Maria João Nabais Sá
AuthID: R-000-VYD
1
TITLE: MUTATIONAL SPECTRUM OF GENES RELATED TO HEREDITARY NEUROPATHIES - DATA FROM A MOLECULAR DIAGNOSTICS LABORATORY Full Text
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: GENETIC HETEROGENEITY IN MUSCULAR DYSTROPHIES AND CONGENITAL MYOPATHIES: DATA FROM MULTIGENE WES-BASED GENETIC STUDIES Full Text
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? Full Text
AUTHORS: Maia, N ; Sa, MJN; Cláudia Oliveira ; Santos, F; Soares, CA; Prior, C; Tkachenko, N; Santos, R; de Brouwer, APM; Jacome, A; Porto, B; Jorge, P;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 1
AUTHORS: Maia, N ; Sa, MJN; Cláudia Oliveira ; Santos, F; Soares, CA; Prior, C; Tkachenko, N; Santos, R; de Brouwer, APM; Jacome, A; Porto, B; Jorge, P;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 1
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TITLE: Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information
AUTHORS: Alexander J M Dingemans; Diante E Stremmelaar; Lisenka E L M Vissers; Sandra Jansen; Maria J Nabais Sá; Angela van Remortele; Noraly Jonis; Kim Truijen; Sam van de Ven; Jeroen Ewals; Michel Verbruggen; David A Koolen; Han G Brunner; Evan E Eichler; Jozef Gecz; Bert B A de Vries;
PUBLISHED: 2021, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 185, ISSUE: 4
AUTHORS: Alexander J M Dingemans; Diante E Stremmelaar; Lisenka E L M Vissers; Sandra Jansen; Maria J Nabais Sá; Angela van Remortele; Noraly Jonis; Kim Truijen; Sam van de Ven; Jeroen Ewals; Michel Verbruggen; David A Koolen; Han G Brunner; Evan E Eichler; Jozef Gecz; Bert B A de Vries;
PUBLISHED: 2021, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 185, ISSUE: 4
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TITLE: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
AUTHORS: Maria J Nabais Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M de Brouwer; Jorge Oliveira;
PUBLISHED: 2021, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8
AUTHORS: Maria J Nabais Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M de Brouwer; Jorge Oliveira;
PUBLISHED: 2021, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8
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TITLE: De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
AUTHORS: Maria J Nabais Sá; Hanka Venselaar; Laurens Wiel; Aurélien Trimouille; Eulalie Lasseaux; Sophie Naudion; Didier Lacombe; Amélie Piton; Catherine Vincent-Delorme; Christiane Zweier; André Reis; Regina Trollmann; Anna Ruiz; Elisabeth Gabau; Annalisa Vetro; Renzo Guerrini; Somayeh Bakhtiari; Michael C Kruer; David J Amor; Monica S Cooper; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 22, ISSUE: 4
AUTHORS: Maria J Nabais Sá; Hanka Venselaar; Laurens Wiel; Aurélien Trimouille; Eulalie Lasseaux; Sophie Naudion; Didier Lacombe; Amélie Piton; Catherine Vincent-Delorme; Christiane Zweier; André Reis; Regina Trollmann; Anna Ruiz; Elisabeth Gabau; Annalisa Vetro; Renzo Guerrini; Somayeh Bakhtiari; Michael C Kruer; David J Amor; Monica S Cooper; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 22, ISSUE: 4
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TITLE: De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
AUTHORS: Maria J Nabais Sá; Geniver El Tekle; Arjan P.M de Brouwer; Sarah L Sawyer; Daniela del Gaudio; Michael J Parker; Farah Kanani; Marie-José H van den Boogaard; Koen van Gassen; Margot I Van Allen; Klaas Wierenga; Gabriela Purcarin; Ellen Roy Elias; Amber Begtrup; Jennifer Keller-Ramey; Tiziano Bernasocchi; Laurens van de Wiel; Christian Gilissen; Hanka Venselaar; Rolph Pfundt; ...More
PUBLISHED: 2020, SOURCE: The American Journal of Human Genetics, VOLUME: 106, ISSUE: 3
AUTHORS: Maria J Nabais Sá; Geniver El Tekle; Arjan P.M de Brouwer; Sarah L Sawyer; Daniela del Gaudio; Michael J Parker; Farah Kanani; Marie-José H van den Boogaard; Koen van Gassen; Margot I Van Allen; Klaas Wierenga; Gabriela Purcarin; Ellen Roy Elias; Amber Begtrup; Jennifer Keller-Ramey; Tiziano Bernasocchi; Laurens van de Wiel; Christian Gilissen; Hanka Venselaar; Rolph Pfundt; ...More
PUBLISHED: 2020, SOURCE: The American Journal of Human Genetics, VOLUME: 106, ISSUE: 3
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TITLE: De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus
AUTHORS: Maria J Nabais Sá; Alexandra N Olson; Grace Yoon; Graeme A M Nimmo; Christopher M Gomez; Michèl A Willemsen; Francisca Millan; Alexandra Schneider; Rolph Pfundt; Arjan P M de Brouwer; Jonathan D Dinman; Bert B A de Vries;
PUBLISHED: 2020, SOURCE: Human Molecular Genetics, VOLUME: 29, ISSUE: 24
AUTHORS: Maria J Nabais Sá; Alexandra N Olson; Grace Yoon; Graeme A M Nimmo; Christopher M Gomez; Michèl A Willemsen; Francisca Millan; Alexandra Schneider; Rolph Pfundt; Arjan P M de Brouwer; Jonathan D Dinman; Bert B A de Vries;
PUBLISHED: 2020, SOURCE: Human Molecular Genetics, VOLUME: 29, ISSUE: 24
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TITLE: De novo and biallelic DEAF1 variants cause a phenotypic spectrum
AUTHORS: Maria J Nabais Sá; Philip J Jensik; Stacey R McGee; Michael J Parker; Nayana Lahiri; Evan P McNeil; Hester Y Kroes; Randi J Hagerman; Rachel E Harrison; Tara Montgomery; Miranda Splitt; Elizabeth E Palmer; Rani K Sachdev; Heather C Mefford; Abbey A Scott; Julian A Martinez-Agosto; Rüdiger Lorenz; Naama Orenstein; Jonathan N Berg; Jeanne Amiel; ...More
PUBLISHED: 2019, SOURCE: Genetics in Medicine, VOLUME: 21, ISSUE: 9
AUTHORS: Maria J Nabais Sá; Philip J Jensik; Stacey R McGee; Michael J Parker; Nayana Lahiri; Evan P McNeil; Hester Y Kroes; Randi J Hagerman; Rachel E Harrison; Tara Montgomery; Miranda Splitt; Elizabeth E Palmer; Rani K Sachdev; Heather C Mefford; Abbey A Scott; Julian A Martinez-Agosto; Rüdiger Lorenz; Naama Orenstein; Jonathan N Berg; Jeanne Amiel; ...More
PUBLISHED: 2019, SOURCE: Genetics in Medicine, VOLUME: 21, ISSUE: 9
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TITLE: Expanding the phenotype of intellectual disability caused by HIVEP2 variants
AUTHORS: Heidi Goldsmith; Anna Wells; Maria J N Sá; Mark Williams; Helen Heussler; Melissa Buckman; Rolph Pfundt; Bert B A de Vries; Himanshu Goel;
PUBLISHED: 2019, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 179, ISSUE: 9
AUTHORS: Heidi Goldsmith; Anna Wells; Maria J N Sá; Mark Williams; Helen Heussler; Melissa Buckman; Rolph Pfundt; Bert B A de Vries; Himanshu Goel;
PUBLISHED: 2019, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 179, ISSUE: 9
